ClinVar

NM_001215.4(CA6):c.337C>T (p.His113Tyr)

Gene:

CA6:carbonic anhydrase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 8957214 (on Assembly GRCh38)
• Chr1: 9017273 (on Assembly GRCh37)

Preferred name:

NM_001215.4(CA6):c.337C>T (p.His113Tyr)

HGVS:

• NC_000001.11:g.8957214C>T
• NG_033975.1:g.16381C>T
• NM_001215.4:c.337C>TMANE SELECT
• NM_001270500.2:c.337C>T
• NM_001270501.2:c.157C>T
• NM_001270502.2:c.25-1696C>T
• NP_001206.2:p.His113Tyr
• NP_001257429.1:p.His113Tyr
• NP_001257430.1:p.His53Tyr
• NC_000001.10:g.9017273C>T
• NM_001215.2:c.337C>T

This HGVS expression did not pass validation

Protein change:

H113Y

Molecular consequence:

• NM_001270502.2:c.25-1696C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001215.4:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270500.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270501.2:c.157C>T - missense variant - [Sequence Ontology: SO:0001583]